Contact details +64 (06) 356 9099

Ana Claasen

Research Technician in Genetics

School of Fundamental Sciences

Research Outputs

Journal

Llaci, L., Ramsey, K., Belnap, N., Claasen, AM., Balak, CD., Szelinger, S., . . . Rangasamy, S. (2019). Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). Human Genetics.
[Journal article]Authored by: Claasen, A.
McCullough, CG., Szelinger, S., Belnap, N., Ramsey, K., Schrauwen, I., Claasen, AM., . . . Craig, DW. (2019). Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia. Human Mutation.
[Journal article]Authored by: Claasen, A.
Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, SN., Partoens, M., Zhang, Y., . . . De Jonghe, P. (2019). Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nature Communications. 10(1)
[Journal article]Authored by: Claasen, A.
McCarthy, MJ., Wei, H., Nievergelt, CM., Stautland, A., Maihofer, AX., Welsh, DK., . . . Kelsoe, JR. (2019). Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder. Neuropsychopharmacology. 44(3), 620-628
[Journal article]Authored by: Claasen, A.
Toro, C., Hori, RT., Malicdan, MCV., Tifft, CJ., Goldstein, A., Gahl, WA., . . . LeDoux, MS. (2018). A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Human Molecular Genetics. 27(4), 691-705
[Journal article]Authored by: Claasen, A.
Lessel, D., Schob, C., Küry, S., Reijnders, MRF., Harel, T., Eldomery, MK., . . . Kreienkamp, HJ. (2018). Erratum: De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (The American Journal of Human Genetics (2017) 101(5) (716–724)(S000292971730383X)(10.1016/j.ajhg.2017.09.014)). American Journal of Human Genetics. 102(1), 196
[Journal article]Authored by: Claasen, A.
Gerald, B., Ramsey, K., Belnap, N., Szelinger, S., Siniard, AL., Balak, C., . . . Narayanan, V. (2018). Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. Seminars in Pediatric Neurology. 26, 28-32
[Journal article]Authored by: Claasen, A.
Dunn, P., Prigatano, GP., Szelinger, S., Roth, J., Siniard, AL., Claasen, AM., . . . Schrauwen, I. (2017). A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. American Journal of Medical Genetics, Part A. 173(3), 611-617
[Journal article]Authored by: Claasen, A.
Banuelos, E., Ramsey, K., Belnap, N., Krishnan, M., Balak, C., Szelinger, S., . . . Schrauwen, I. (2017). Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. F1000Research. 6
[Journal article]Authored by: Claasen, A.
Lessel, D., Schob, C., Küry, S., Reijnders, MRF., Harel, T., Eldomery, MK., . . . Kreienkamp, HJ. (2017). De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 101(5), 716-724
[Journal article]Authored by: Claasen, A.
Halperin, RF., Carpten, JD., Manojlovic, Z., Aldrich, J., Keats, J., Byron, S., . . . Craig, DW. (2017). A method to reduce ancestry related germline false positives in tumor only somatic variant calling. BMC Medical Genomics. 10(1)
[Journal article]Authored by: Claasen, A.
Moskowitz, AM., Belnap, N., Siniard, AL., Szelinger, S., Claasen, AM., Richholt, RF., . . . Schrauwen, I. (2016). A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.. Cold Spring Harb Mol Case Stud. 2(5), a000851
[Journal article]Authored by: Claasen, A.
Oedegaard, KJ., Alda, M., Anand, A., Andreassen, OA., Balaraman, Y., Berrettini, WH., . . . Kelsoe, JR. (2016). The Pharmacogenomics of Bipolar Disorder study (PGBD): Identification of genes for lithium response in a prospective sample. BMC Psychiatry. 16(1)
[Journal article]Authored by: Claasen, A.
Claasen, AM., Guévremont, D., Mason-Parker, SE., Bourne, K., Tate, WP., Abraham, WC., . . . Williams, JM. (2009). Secreted amyloid precursor protein-α upregulates synaptic protein synthesis by a protein kinase G-dependent mechanism. Neuroscience Letters. 460(1), 92-96
[Journal article]Authored by: Claasen, A.

Conference

Ramsey, K., Narayanan, V., Belnap, N., Gerald, B., Craig, D., Huentelman, M., . . . Meechoovet, B.The Pitfalls and Triumphs of Whole Exome Sequencing in Rare Childhood Disorders. ANNALS OF NEUROLOGY. (pp. S307 - S308). 0364-5134.
[Conference]Authored by: Claasen, A.

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